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8/14/2025 10:52:01 AM | Browse: 7 | Download: 23
Publication Name World Journal of Diabetes
Manuscript ID 108946
Country China
Received
2025-04-28 10:27
Peer-Review Started
2025-04-29 09:01
To Make the First Decision
Return for Revision
2025-05-20 09:58
Revised
2025-06-02 14:28
Second Decision
2025-07-08 00:23
Accepted by Journal Editor-in-Chief
2025-07-11 09:02
Accepted by Executive Editor-in-Chief
2025-07-14 09:16
Articles in Press
2025-07-14 09:16
Publication Fee Transferred
2025-06-09 07:03
Edit the Manuscript by Language Editor
Typeset the Manuscript
2025-08-01 13:50
Publish the Manuscript Online
2025-08-14 10:52
ISSN 1948-9358 (online)
Open Access This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Copyright © The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
Permissions For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Pediatrics
Manuscript Type Case Report
Article Title WFS1 gene mutation associated with pediatric diabetes mellitus and congenital deafness: A case report
Manuscript Source Unsolicited Manuscript
All Author List Ai-Min Gao, Wan-Ling Deng, Xin-Ping Yang, Wan-Yue Wu, Chun-Yuan Ma and Yu Liu
ORCID
Author(s) ORCID Number
Yu Liu http://orcid.org/0009-0005-0560-3024
Funding Agency and Grant Number
Funding Agency Grant Number
Beijing Holistic Integrative Medicine Association Clinical Research Funding Program ZHKY-2024-2209
Corresponding Author Yu Liu, Chief Physician, Department of Pediatric Endocrinology, Genetics and Metabolism, Guiyang Maternal and Child Health Care Hospital, Guiyang Children's Hospital, No. 63 Ruijin South Road, Nanming District, Guiyang 550000, Guizhou Province, China. yuliudoctor2@163.com
Key Words Childhood diabetes mellitus; Congenital deafness; WFS1 gene; Wolfram syndrome; Monogenic diabetes
Core Tip A 2 year old girl with diabetic ketoacidosis and congenital deafness was found to carry a novel heterozygous WFS1 mutation (c.986T > C, p.Phe329Ser). Rapid whole exome sequencing confirmed Wolfram syndrome, guiding timely metabolic correction, insulin therapy, audiologic support, and genetic counseling. This previously unreported variant expands the WFS1 mutational spectrum and underscores the value of early genetic testing in children whose diabetes presents with atypical features such as sensorineural hearing loss.
Publish Date 2025-08-14 10:52
Citation <p>Gao AM, Deng WL, Yang XP, Wu WY, Ma CY, Liu Y. WFS1 gene mutation associated with pediatric diabetes mellitus and congenital deafness: A case report. <i>World J Diabetes</i> 2025; 16(8): 108946</p>
URL https://www.wjgnet.com/1948-9358/full/v16/i8/108946.htm
DOI https://dx.doi.org/10.4239/wjd.v16.i8.108946
Full Article (PDF) WJD-16-108946-with-cover.pdf
CARE Checklist–2016 108946-CARE-Checklist-2016.pdf
Manuscript File 108946_Auto_Edited_065015.docx
Answering Reviewers 108946-answering-reviewers.pdf
Audio Core Tip 108946-audio.mp3
Conflict-of-Interest Disclosure Form 108946-conflict-of-interest-statement.pdf
Copyright License Agreement 108946-copyright-assignment.pdf
Approved Grant Application Form(s) or Funding Agency Copy of any Approval Document(s) 108946-foundation-statement.pdf
Signed Consent for Treatment Form(s) or Document(s) 108946-informed-consent-statement.pdf
Non-Native Speakers of English Editing Certificate 108946-non-native-speakers.pdf
Supplementary Material 108946-supplementary-material.pdf
Peer-review Report 108946-peer-reviews.pdf
Journal Editor-in-Chief Review Report 108946-journal-editor-in-chief.pdf
Scientific Misconduct Check 108946-scientific-misconduct-check.png
Scientific Editor Work List 108946-scientific-editor-work-list.pdf
CrossCheck Report 108946-crosscheck-report.pdf